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Article

Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.

Neurology - 31 May 2016

Desaphy Jean-François, Carbonara Roberta, D'Amico Adele, Modoni Anna, Roussel Julien, Imbrici Paola, Pagliarani Serena, Lucchiari Sabrina, Lo Monaco Mauro, Conte Camerino Diana

Abstract excerpt

OBJECTIVE: We performed a clinical, functional, and pharmacologic characterization of the novel p.P1158L Nav1.4 mutation identified in a young girl presenting a severe myotonic phenotype. METHODS: Wild-type hNav1.4 channel and P1158L mutant were expressed in tsA201 cells for functional and pharmacologic studies using patch-clamp. RESULTS: The patient shows pronounced myotonia, slowness of movements, and...

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Identifiers

PMID: 27164696
DOI: 10.1212/WNL.0000000000002721
PMCID: PMC4891212

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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